NM_003001.5(SDHC):c.*84G>C AND not provided

Germline classification:: Conflicting classifications of pathogenicity (5 submissions)
Last evaluated:: Mar 1, 2025
Review status:: criteria provided, conflicting classifications

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000034692.39

Allele description [Variation Report for NM_003001.5(SDHC):c.*84G>C]

NM_003001.5(SDHC):c.*84G>C

Gene:

SDHC:succinate dehydrogenase complex subunit C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.3

Genomic location:

Preferred name:

NM_003001.5(SDHC):c.*84G>C

HGVS:

NC_000001.11:g.161362517G>C
NG_012767.1:g.53142G>C
NM_001035511.3:c.430G>C
NM_001035512.3:c.*84G>C
NM_001035513.3:c.*84G>C
NM_001278172.3:c.328G>C
NM_001407115.1:c.*84G>C
NM_001407116.1:c.*84G>C
NM_001407117.1:c.*84G>C
NM_001407118.1:c.*84G>C
NM_001407119.1:c.*84G>C
NM_001407120.1:c.*84G>C
NM_001407121.1:c.373G>C
NM_003001.5:c.*84G>CMANE SELECT
NP_001030588.1:p.Glu144Gln
NP_001030588.1:p.Glu144Gln
NP_001265101.1:p.Glu110Gln
NP_001265101.1:p.Glu110Gln
NP_001394050.1:p.Glu125Gln
LRG_317t1:c.*84G>C
LRG_317:g.53142G>C
NC_000001.10:g.161332307G>C
NM_001035511.1:c.430G>C
NM_001035511.2:c.430G>C
NM_001035512.2:c.*84G>C
NM_001035513.2:c.*84G>C
NM_001278172.1:c.328G>C
NM_001278172.2:c.328G>C
NM_003001.3:c.*84G>C
NR_103459.2:n.646G>C
NR_103459.3:n.646G>C

Protein change:

E110Q

Links:

dbSNP: rs201210474

NCBI 1000 Genomes Browser:

rs201210474

Molecular consequence:

NM_003001.5:c.*84G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001035511.3:c.430G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001278172.3:c.328G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407121.1:c.373G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000043488	Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq	no assertion criteria provided	Benign (Jul 13, 2012)	germline	research	PubMed (1) [See all records that cite this PMID]
SCV000493607	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (Mar 1, 2025)	germline	clinical testing	Citation Link,
SCV000602173	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Benign (Oct 29, 2020)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001860002	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Mar 3, 2015)	germline	clinical testing	Citation Link,
SCV002010038	Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 3, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	58	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	no	8	not provided	not provided	511	not provided	research
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG.

Am J Hum Genet. 2012 Jul 13;91(1):97-108. doi: 10.1016/j.ajhg.2012.05.021. Epub 2012 Jun 14.

PubMed [citation]

PMID:: 22703879
PMCID:: PMC3397257

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

See all PubMed Citations (3)

Details of each submission

From Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq, SCV000043488.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	8	not provided	not provided	research	PubMed (1)

Description

The study set was not selected for affection status in relation to any cancer. Pathogenicity categories were based on literature curation. See PubMed ID:22703879 for details.

Description

Converted during submission from no known pathogenicity to Benign.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	511	not provided	discovery		8	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV000493607.37

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	58	not provided	not provided	clinical testing	not provided

Description

SDHC: PP3, BS1, BS2

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		58	not provided	not provided	not provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000602173.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From GeneDx, SCV001860002.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is associated with the following publications: (PMID: 28220018, 24728327)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden, SCV002010038.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 8, 2025

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